| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154360319T>G | CA256057 | FLNA | c.3476A>C (p.Asp1159Ala) c.3395A>C (p.Asp1132Ala) c.3160+1036A>C (n.3160+1036A>C) c.3533A>C (n.3533A>C) c.279+5117A>C c.3755A>C (n.3755A>C) c.3432A>C (n.3432A>C) c.3275A>C (p.Asp1092Ala) | ClinVar dbSNP |
| X | g.154360319T= | CA2466655508 | FLNA | c.3476A= (p.Asp1159=) c.3395A= (p.Asp1132=) c.3160+1036A= (n.3160+1036A=) c.3533A= (n.3533A=) c.279+5117A= c.3755A= (n.3755A=) c.3432A= (n.3432A=) c.3275A= (p.Asp1092=) | dbSNP |